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@article{1809357, author = {Poovakulathu Abraham, Sara and Nită, Alexandru and Krejčí, Pavel and Bosáková, Michaela}, article_location = {United States}, article_number = {4}, doi = {http://dx.doi.org/10.1002/dvdy.426}, keywords = {cilia kinase; ciliopathy; endochondral bone formation; primary cilia; skeletal ciliopathy; skeletal dysplasia; skeletogenesis}, language = {eng}, issn = {1058-8388}, journal = {Developmental dynamics}, title = {Cilia kinases in skeletal development and homeostasis}, url = {https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426}, volume = {251}, year = {2022} }
TY - JOUR ID - 1809357 AU - Poovakulathu Abraham, Sara - Nită, Alexandru - Krejčí, Pavel - Bosáková, Michaela PY - 2022 TI - Cilia kinases in skeletal development and homeostasis JF - Developmental dynamics VL - 251 IS - 4 SP - 577-608 EP - 577-608 PB - Wiley-Liss SN - 10588388 KW - cilia kinase KW - ciliopathy KW - endochondral bone formation KW - primary cilia KW - skeletal ciliopathy KW - skeletal dysplasia KW - skeletogenesis UR - https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426 N2 - Primary cilia are dynamic compartments that regulate multiple aspects of cellular signaling. The production, maintenance, and function of cilia involve more than 1000 genes in mammals, and their mutations disrupt the ciliary signaling which manifests in a plethora of pathological conditions-the ciliopathies. Skeletal ciliopathies are genetic disorders affecting the development and homeostasis of the skeleton, and encompass a broad spectrum of pathologies ranging from isolated polydactyly to lethal syndromic dysplasias. The recent advances in forward genetics allowed for the identification of novel regulators of skeletogenesis, and revealed a growing list of ciliary proteins that are critical for signaling pathways implicated in bone physiology. Among these, a group of protein kinases involved in cilia assembly, maintenance, signaling, and disassembly has emerged. In this review, we summarize the functions of cilia kinases in skeletal development and disease, and discuss the available and upcoming treatment options. ER -
POOVAKULATHU ABRAHAM, Sara, Alexandru NIT$\backslash$U A, Pavel KREJČÍ and Michaela BOSÁKOVÁ. Cilia kinases in skeletal development and homeostasis. \textit{Developmental dynamics}. United States: Wiley-Liss, 2022, vol.~251, No~4, p.~577-608. ISSN~1058-8388. Available from: https://dx.doi.org/10.1002/dvdy.426.
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